OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome (Orphanet code 261559) is an obsolete disease entry that was previously used to describe cases of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) attributed specifically to chromosomal rearrangements involving the 3q23 region. BPES is a developmental condition primarily affecting the eyelids and surrounding structures, characterized by four major features: blepharophimosis (narrowing of the horizontal eye opening), epicanthus inversus (a skin fold arising from the lower eyelid), ptosis (drooping of the upper eyelids), and telecanthus (increased distance between the inner corners of the eyes). These features are typically present from birth and can impair vision if left untreated. This specific entry has been marked as obsolete in Orphanet, meaning it has been retired and its cases are now classified under the broader BPES entity (Orphanet code 126), which is most commonly caused by mutations or rearrangements involving the FOXL2 gene located at chromosome 3q22.3-q23. BPES is inherited in an autosomal dominant pattern and is subdivided into two types: Type I, which includes premature ovarian insufficiency in females, and Type II, which involves only the eyelid malformations. Management typically involves surgical correction of the ptosis and blepharophimosis, usually performed in early childhood to optimize visual development and prevent amblyopia. Patients with Type I BPES may also require reproductive counseling and hormonal management for ovarian insufficiency.

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